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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000345193.7:p.[Arg1171_Ser1172delinsAlaValGly;Ser1174His;Ser1176_Gln1181delinsProArgTyrCysAsnSer;Pro1183delinsSerGln;Asn1186_His1195delinsLeuLeuGlnLeuAsnLeuSerThrCysGly;Trp1197_Pro1200delinsAsn]
CA2534072154
ENST00000338508.9:c.3510del